Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		1.000 GermlineCausalMutation ORPHANET The aim of this study was to screen and detect mutations of the ATP7B gene in unrelated Turkish Wilson disease patients (n = 46) and control group (n = 52). 23333878

2013
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		1.000 GermlineCausalMutation ORPHANET We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells. 22240481

2012